ReCognitION aims to map pathways associated with the positive response to Cognitive Behavioural Therapy (CBT) in patients
with Myotonic Dystrophy type 1 (DM1). These pathways can then be consolidated or reinforced by conventional drug therapies
targeting the same pathways. ReCognitION’s molecular screenings are done on samples collected in the successful
OPTIMISTIC trial (WP1). Data from these screenings are plotted on existing knowledge maps summarizing the current
knowledge on DM1 (WP2). Pathways are validated in cell and mouse models available to the consortium (WP3) and new drugs
targeting these pathways will be validated in medium-throughput cellular screens (WP4).
For a more detailed explanation please see the patient leaflets.
Results achieved thus far
Based on the during the OPTIMISTIC study collected blood samples 27 RNA and more than 400 protein expression profiles before and after the therapy were generated. RNA biomarkers associated with the disease causing mutation as well as the response to therapy were identified. Interestingly, the RNA biomarkers associated with both returned towards more normal levels in patients responding well to the therapy. As such, these targets are of high interest for the ongoing research into the discovery of druggable pathways. Furthermore, the analysis of the protein expression profiles, as well as the combination of RNA and protein profiles (Proteogenomics) are currently being implemented.